Canonical Allele Identifier: CA5545948

Gene: CDH23

Linked Data

• dbSNP Id: rs759107451
• ExAC: 10:73550072 C / G
• gnomAD v2: 10-73550072-C-G
• gnomAD v4: 10-71790315-C-G
• MyVariant Identifiers: chr10:g.73550072C>G (hg19) ; chr10:g.71790315C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71790315C>G , CM000672.2:g.71790315C>G	GRCh38
NC_000010.10:g.73550072C>G , CM000672.1:g.73550072C>G	GRCh37
NC_000010.9:g.73220078C>G	NCBI36
NG_008835.1:g.398369C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.5951C>G MANE Select	ENSP00000224721.9:p.Pro1984Arg
ENST00000224721.10:c.5966C>G	ENSP00000224721.8:p.Pro1989Arg
ENST00000622827.4:c.5951C>G	ENSP00000483211.1:p.Pro1984Arg
NM_022124.5:c.5951C>G	NP_071407.4:p.Pro1984Arg
XM_006717940.2:c.6146C>G	XP_006718003.1:p.Pro2049Arg
XM_006717942.2:c.6080C>G	XP_006718005.1:p.Pro2027Arg
XM_011540039.1:c.6143C>G	XP_011538341.1:p.Pro2048Arg
XM_011540040.1:c.6140C>G	XP_011538342.1:p.Pro2047Arg
XM_011540041.1:c.6086C>G	XP_011538343.1:p.Pro2029Arg
XM_011540042.1:c.6146C>G	XP_011538344.1:p.Pro2049Arg
XM_011540043.1:c.6146C>G	XP_011538345.1:p.Pro2049Arg
XM_011540044.1:c.6011C>G	XP_011538346.1:p.Pro2004Arg
XM_011540045.1:c.6146C>G	XP_011538347.1:p.Pro2049Arg
XM_011540046.1:c.5606C>G	XP_011538348.1:p.Pro1869Arg
XM_011540047.1:c.4964C>G	XP_011538349.1:p.Pro1655Arg
XM_011540048.1:c.6146C>G	XP_011538350.1:p.Pro2049Arg
XM_011540049.1:c.6146C>G	XP_011538351.1:p.Pro2049Arg
XM_011540050.1:c.6146C>G	XP_011538352.1:p.Pro2049Arg
XM_011540051.1:c.6146C>G	XP_011538353.1:p.Pro2049Arg
XM_011540052.1:c.2474C>G	XP_011538354.1:p.Pro825Arg
XR_945796.1:n.6389C>G
NM_022124.6:c.5951C>G MANE Select	NP_071407.4:p.Pro1984Arg